Results 81 to 90 of about 21,310 (228)

A retrospective analysis of 38,652 amniotic fluid karyotype

Frontiers in Genetics
BackgroundChromosomal karyotype analysis remains a classical and frontline method in prenatal diagnosis, capable of detecting balanced chromosomal abnormalities and providing insights distinct from high‐resolution molecular techniques such as CMA and CNV‐
Jianyu Ren, Xiaojiao Guan, Wenzhe Lv, Yousheng Yan, Yanmei Si, Shufa Yang, Chenghong Yin   +6 more
doaj   +1 more source

Maternal‐Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy

Annals of Neurology, Volume 100, Issue 3, Page 584-599, September 2026.
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton, Ariane Beauvais, Rebecca Yaworski, Hugh J. McMillan, Rashmi Kothary   +4 more
wiley   +1 more source

The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience in Enhancing Reproductive Care and Risk Stratification

Diagnostics
Background/Objective: Prenatal cytogenetic testing is essential for pregnant women who are at high risk of having a child with a chromosomal abnormality.
Abdullatif Bakır, Mustafa Tarık Alay, Umut Can Tekbaş, Sadun Sucu, İrem Kalay, Hanife Saat   +5 more
doaj   +1 more source

Discrepancy of Cytogenetic Analysis in Western and Eastern Taiwan

Pediatrics and Neonatology, 2013
This study aimed at investigating the results of second-trimester amniocyte karyotyping in western and eastern Taiwan, and identifying any regional differences in the prevalence of fetal chromosomal anomalies.
Yu-Hsun Chang, Pui-Yi Chen, Tzu-Ying Li, Chung-Nan Yeh, Yi-Shian Li, Shao-Yin Chu, Ming-Liang Lee   +6 more
doaj   +1 more source

Premature Ductus Arteriosus Constriction and Pulmonary Trunk Dilation in a Case of Non‐Immune Hydrops Fetalis With Trisomy 21

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Premature constriction of the ductus arteriosus accompanied by the dilation of the pulmonary trunk constitutes a rare congenital heart anomaly that may be underestimated and can result in fetal hydrops and ultimately death if not treated; therefore, it necessitates fetal post‐mortem evaluation in all cases of legal abortion or fetal death.
Nazari Mohadeseh, Hejrati Zinatosadat, Pajokh Mojde   +2 more
wiley   +1 more source

Pregnant women's attitudes toward amniocentesis before receiving Down syndrome screening results

, 2008
OBJECTIVES: We sought to evaluate pregnant women's knowledge about features of second-trimester screening for Down syndrome and to assess whether knowledge and educational level influence their attitude toward amniocentesis before receiving test results.
Brumini, Gordana, Ristic, Smiljana, Babic, Ivana, Vranekovic, Jadranka, Brajenovic-Milic, Bojana, Kapovic, Miljenko   +5 more
core  

La amniocentesis: indicaciones, técnica y complicaciones [PDF]

, 1972
Se presentan los resultados de 350 amniocentesis practicadas por vía transabdominal en distintas semanas del embarazo y por variadas ...
Fernando Sanchez Torres, Sanchez Torres, Fernando   +1 more
core  

Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD

Prenatal Diagnosis, EarlyView.
Zandra C. Deans, Lina Basel Salmon, Kwong Wai Choy, Guido de Wert, Zirui Dong, Lilian Downie, Francesca Romana Grati, Sabine Hentze, Paula Jorge, Brynn Levy, Luca Lovrecic, Dora Mayen, Álvaro Mendes, Michael Morris, Ashley Pritchard, Raquel Gouveia Silva, Tina‐Marié Wessels, Francesca Forzano, Natalie J. Chandler   +18 more
wiley   +1 more source

Clinical Application of Long‐Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
The third‐generation sequencing was used to detect the FMR1 gene, whose abnormalities are the primary causes of fragile X syndrome (FXS). Finally, a mutation database of the FMR1 gene in Shandong, China was established and provided prenatal diagnosis and genetic counseling for relevant individuals.
Yan Li, Fei Hou, Shan Shan, Yingying Peng, Hua Jin   +4 more
wiley   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

Prenatal Diagnosis, Volume 46, Issue 10, Page 1637-1647, September 2026.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa, León‐Madero Luis Felipe, Jiménez‐Chaidez Salvador, Gallardo‐Gaona Juan Manuel, Rodríguez‐Sibaja María Jose, Castañeda‐de‐la‐Fuente Angelica, Del Castillo‐Reyes Katia Alejandra, Yañez‐Felix Ana Lucia, Morales‐Dominguez Valeria, Borboa‐Olivares Héctor Jesús, Sevilla‐Montoya Rosalba   +10 more
wiley   +1 more source